• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LMAN1 (HGNC:6631) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
lectin, mannose binding 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
F5F8D
Alias symbols
MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1
%HI
36.45(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.55(Read more about gnomAD LOEUF score)
Cytoband
18q21.32
Genomic Coordinates
GRCh37/hg19: chr18:56995055-57026497 NCBI Ensembl UCSC
GRCh38/hg38: chr18:59327823-59359265 NCBI Ensembl UCSC
MANE Select Transcript
NM_005570.4 ENST00000251047.6 (Read more about MANE Select)
Function
Mannose-specific lectin. May recognize sugar residues of glycoproteins, glycolipids, or glycosylphosphatidyl inositol anchors and may be involved in the sorting or recycling of proteins, lipids, or both. The LMAN1-MCFD2 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. {ECO:0000269|PubMed:12717434, ECO:0000269|PubMed:13130098}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-24853
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • factor V and factor VIII, combined deficiency of, type 1 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)